Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4

Liang Zong; Chunye Lu; Yali Zhao; Qian Li; Dongyi Han; Weiyan Yang; Yan Shen; Qingyin Zheng; Qiuju Wang

doi:10.1016/j.jgg.2012.11.002

Volume 39 Issue 12

Dec. 2012

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Article Navigation > Journal of Genetics and Genomics > 2012 > 39(12): 653-657

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Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4

doi: 10.1016/j.jgg.2012.11.002

a
Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China
b
Chinese National Human Genome Centre, Beijing 100176, China
c
Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100853, China
d
Department of Otolaryngology-HNS, Case Western Reserve University, Cleveland, OH 44106, USA

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Corresponding author: E-mail address: wqcr@263.net (Qiuju Wang)
Received Date: 2012-09-07
Accepted Date: 2012-11-06
Rev Recd Date: 2012-11-05

Available Online: 2012-11-16

Publish Date: 2012-12-20

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References(22)

References

[1]	Alford, R.L. Nonsyndromic hereditary hearing loss Adv. Otorhinolaryngol., 70 (2011),pp. 37-42
[2]	Bayazit, Y.A., Yilmaz, M. An overview of hereditary hearing loss ORL. J. Otorhinolaryngol. Relat. Spec., 68 (2006),pp. 57-63
[3]	Bearer, E.L., Chen, A.F., Chen, A.H. et al. Ann. Hum. Genet., 64 (2000),pp. 189-196
[4]	Chen, A.H., Ni, L., Fukushima, K. et al. Linkage of a gene for dominant non-syndromic deafness to chromosome 19 Hum. Mol. Genet., 4 (1995),pp. 1073-1076
[5]	Coucke, P.J., Van-Hauwe, P., Kelley, P.M. et al. Hum. Mol. Genet., 8 (1999),pp. 1321-1328
[6]	Donaudy, F., Snoeckx, R., Pfister, M. et al. Am. J. Hum. Genet., 74 (2004),pp. 770-776
[7]	Gao, J., Maison, S.F., Wu, X. et al. Orphan glutamate receptor δ1 subunit required for high-frequency hearing Mol. Cell. Biol., 27 (2007),pp. 4500-4512
[8]	Goldstein, J.A., Lalwani, A.K. Further evidence for a third deafness gene within the DFNA2 locus Am. J. Med. Genet., 108 (2002),pp. 304-309
[9]	Grifa, A., Wagner, C.A., D'Ambrosio, L. et al. Nat. Genet., 23 (1999),pp. 16-18
[10]	Lenz, D.R., Avraham, K.B. Hereditary hearing loss: from human mutation to mechanism Hear. Res., 281 (2011),pp. 3-10
[11]	Mhatre, A.N., Li, J., Chen, A.F. et al. J. Neurosci. Res., 75 (2004),pp. 25-31
[12]	Mirghomizadeh, F., Bardtke, B., Devoto, M. et al. Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation Eur. J. Hum. Genet., 10 (2002),pp. 95-99
[13]	Pusch, C.M., Meyer, B., Kupka, S. et al. Refinement of the DFNA4 locus to a 144 Mb region in 19q13.33 J. Mol. Med., 82 (2004),pp. 398-402
[14]	Ruel, J., Emery, S., Nouvian, R. et al. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice Am. J. Hum. Genet., 83 (2008),pp. 278-292
[15]	Schenck, S., Wojcik, S.M., Brose, N. et al. A chloride conductance in VGLUT1 underlies maximal glutamate loading into synaptic vesicles Nat. Neurosci., 12 (2009),pp. 156-162
[16]	Van-Hauwe, P., Coucke, P.J., Declau, F. et al. Deafness linked to DFNA2: one locus but how many genes? Nat. Genet., 21 (1999),p. 263
[17]	Wang, Q., Lu, C., Li, N. et al. Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family J. Med. Genet., 41 (2004),p. e80
[18]	Xia, J.H., Liu, C.Y., Tang, B.S. et al. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment Nat. Genet., 20 (1998),pp. 370-373
[19]	Yan, X.K., Zhang, T.Y., Wang, Z.M. et al. J. Genet. Genomics, 38 (2011),pp. 585-591
[20]	Yang, T., Pfister, M., Blin, N. et al. Genetic heterogeneity of deafness phenotypes linked to DFNA4 Am. J. Med. Genet., 139 (2005),pp. 9-12
[21]	Zhang, J., Chiodini, R., Badr, A. et al. The impact of next-generation sequencing on genomics J. Genet. Genomics, 38 (2011),pp. 95-109
[22]	Zheng, J., Miller, K.K., Yang, T. et al. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4) Proc. Natl. Acad. Sci. USA, 108 (2011),pp. 4218-4223